Incidental Mutation 'R5951:Rhobtb1'
| ID |
470899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhobtb1
|
| Ensembl Gene |
ENSMUSG00000019944 |
| Gene Name |
Rho-related BTB domain containing 1 |
| Synonyms |
3110048G13Rik, 1700008H16Rik |
| MMRRC Submission |
044141-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.498)
|
| Stock # |
R5951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
68987264-69127621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69106085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 217
(F217I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020101]
[ENSMUST00000067908]
[ENSMUST00000163497]
[ENSMUST00000164034]
[ENSMUST00000167384]
[ENSMUST00000168117]
|
| AlphaFold |
Q9DAK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020101
AA Change: F279I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: F279I
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
17 |
210 |
5.8e-34 |
SMART |
|
low complexity region
|
225 |
246 |
N/A |
INTRINSIC |
|
BTB
|
266 |
456 |
6.29e-13 |
SMART |
|
BTB
|
484 |
582 |
9.03e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067908
AA Change: F279I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: F279I
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
17 |
210 |
5.8e-34 |
SMART |
|
low complexity region
|
225 |
246 |
N/A |
INTRINSIC |
|
BTB
|
266 |
456 |
6.29e-13 |
SMART |
|
BTB
|
484 |
582 |
9.03e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163497
|
| SMART Domains |
Protein: ENSMUSP00000129119
Gene: ENSMUSG00000019944
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
96 |
1.8e-5 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164034
AA Change: F279I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: F279I
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
17 |
210 |
5.8e-34 |
SMART |
|
low complexity region
|
225 |
246 |
N/A |
INTRINSIC |
|
BTB
|
266 |
456 |
6.29e-13 |
SMART |
|
BTB
|
484 |
582 |
9.03e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164876
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167384
AA Change: F217I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: F217I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RYT|C
|
10 |
97 |
8e-6 |
PDB |
|
SCOP:d1ky3a_
|
15 |
150 |
8e-16 |
SMART |
|
Blast:RHO
|
17 |
99 |
5e-50 |
BLAST |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
BTB
|
204 |
394 |
6.29e-13 |
SMART |
|
BTB
|
422 |
520 |
9.03e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168117
|
| SMART Domains |
Protein: ENSMUSP00000131509
Gene: ENSMUSG00000019944
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
16 |
97 |
1.9e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169569
|
| Meta Mutation Damage Score |
0.0828 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (78/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,811 (GRCm39) |
E180D |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,232,720 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,590,620 (GRCm39) |
I4396N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,450,199 (GRCm39) |
S2331L |
possibly damaging |
Het |
| Apoh |
G |
T |
11: 108,286,729 (GRCm39) |
C51F |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,317,648 (GRCm39) |
V177A |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,249,935 (GRCm39) |
I343N |
probably damaging |
Het |
| Bcar1 |
T |
C |
8: 112,440,032 (GRCm39) |
D654G |
probably benign |
Het |
| Brox |
T |
C |
1: 183,064,072 (GRCm39) |
K245R |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,524,577 (GRCm39) |
S258R |
possibly damaging |
Het |
| Ccdc169 |
A |
C |
3: 55,047,562 (GRCm39) |
K18Q |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Crot |
C |
A |
5: 9,019,120 (GRCm39) |
E478* |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,802,236 (GRCm39) |
M443K |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,339,057 (GRCm39) |
L326Q |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,000,342 (GRCm39) |
I93V |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,357 (GRCm39) |
T44I |
probably benign |
Het |
| Enc1 |
T |
C |
13: 97,381,765 (GRCm39) |
S92P |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,051 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
T |
A |
10: 23,031,892 (GRCm39) |
S244C |
probably damaging |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,436,173 (GRCm39) |
I490F |
possibly damaging |
Het |
| Galntl6 |
A |
G |
8: 58,415,436 (GRCm39) |
V239A |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,892,323 (GRCm39) |
I841V |
possibly damaging |
Het |
| Gm15455 |
T |
C |
1: 33,876,893 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd1l |
C |
T |
9: 114,743,473 (GRCm39) |
M142I |
probably benign |
Het |
| Helb |
A |
G |
10: 119,927,653 (GRCm39) |
V819A |
possibly damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,802,255 (GRCm39) |
F374C |
probably damaging |
Het |
| Hoxc10 |
G |
A |
15: 102,875,753 (GRCm39) |
S154N |
possibly damaging |
Het |
| Ice2 |
A |
T |
9: 69,319,651 (GRCm39) |
T367S |
possibly damaging |
Het |
| Iqca1 |
A |
T |
1: 90,067,819 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,535,801 (GRCm39) |
D1447E |
probably benign |
Het |
| Larp1 |
G |
T |
11: 57,940,765 (GRCm39) |
M630I |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,326,667 (GRCm39) |
|
probably null |
Het |
| Map4k3 |
G |
T |
17: 80,911,427 (GRCm39) |
Q673K |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,686,823 (GRCm39) |
N201D |
possibly damaging |
Het |
| Mrpl15 |
C |
A |
1: 4,855,956 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,998,222 (GRCm39) |
V655D |
probably damaging |
Het |
| Odf1 |
T |
C |
15: 38,226,531 (GRCm39) |
Y144H |
probably damaging |
Het |
| Or2f1b |
G |
T |
6: 42,739,493 (GRCm39) |
C169F |
probably damaging |
Het |
| Or5t5 |
G |
T |
2: 86,616,571 (GRCm39) |
V166L |
probably benign |
Het |
| Padi1 |
T |
C |
4: 140,542,140 (GRCm39) |
Y594C |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,756,049 (GRCm39) |
D520E |
probably benign |
Het |
| Paox |
G |
A |
7: 139,707,567 (GRCm39) |
C130Y |
probably damaging |
Het |
| Parpbp |
T |
A |
10: 87,975,769 (GRCm39) |
S115C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,721,708 (GRCm39) |
V1438A |
possibly damaging |
Het |
| Pdlim2 |
T |
A |
14: 70,405,229 (GRCm39) |
D212V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,121,006 (GRCm39) |
F53L |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,967,419 (GRCm39) |
D839E |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,710,625 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,492 (GRCm39) |
Y1268N |
probably benign |
Het |
| Prelid3a |
C |
T |
18: 67,598,011 (GRCm39) |
S6L |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,175,682 (GRCm39) |
D285A |
possibly damaging |
Het |
| Rasd2 |
T |
G |
8: 75,948,811 (GRCm39) |
Y246D |
probably damaging |
Het |
| Rhbdl2 |
A |
G |
4: 123,708,120 (GRCm39) |
T110A |
probably benign |
Het |
| Serhl |
T |
C |
15: 82,987,237 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,078 (GRCm39) |
E613G |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,502,714 (GRCm39) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,025,769 (GRCm39) |
I110T |
probably benign |
Het |
| Syde1 |
C |
A |
10: 78,425,150 (GRCm39) |
R287L |
possibly damaging |
Het |
| Tmem184c |
C |
T |
8: 78,325,291 (GRCm39) |
|
probably null |
Het |
| Trmt44 |
C |
A |
5: 35,730,032 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,603,764 (GRCm39) |
S256R |
probably benign |
Het |
| Ttll6 |
A |
T |
11: 96,036,336 (GRCm39) |
I322F |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,205,753 (GRCm39) |
|
probably null |
Het |
| Wsb2 |
A |
T |
5: 117,515,600 (GRCm39) |
T402S |
probably damaging |
Het |
|
| Other mutations in Rhobtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Rhobtb1
|
APN |
10 |
69,106,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01504:Rhobtb1
|
APN |
10 |
69,085,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01561:Rhobtb1
|
APN |
10 |
69,106,221 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01924:Rhobtb1
|
APN |
10 |
69,106,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Rhobtb1
|
APN |
10 |
69,085,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02334:Rhobtb1
|
APN |
10 |
69,121,508 (GRCm39) |
splice site |
probably benign |
|
|
IGL02393:Rhobtb1
|
APN |
10 |
69,124,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Rhobtb1
|
APN |
10 |
69,125,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03192:Rhobtb1
|
APN |
10 |
69,084,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Rhobtb1
|
UTSW |
10 |
69,106,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Rhobtb1
|
UTSW |
10 |
69,108,602 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1713:Rhobtb1
|
UTSW |
10 |
69,108,601 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1750:Rhobtb1
|
UTSW |
10 |
69,115,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Rhobtb1
|
UTSW |
10 |
69,108,693 (GRCm39) |
splice site |
probably benign |
|
|
R2312:Rhobtb1
|
UTSW |
10 |
69,106,293 (GRCm39) |
nonsense |
probably null |
|
|
R2402:Rhobtb1
|
UTSW |
10 |
69,106,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3815:Rhobtb1
|
UTSW |
10 |
69,121,523 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4633:Rhobtb1
|
UTSW |
10 |
69,085,443 (GRCm39) |
splice site |
probably null |
|
|
R4737:Rhobtb1
|
UTSW |
10 |
69,115,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4780:Rhobtb1
|
UTSW |
10 |
69,105,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4865:Rhobtb1
|
UTSW |
10 |
69,106,554 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5124:Rhobtb1
|
UTSW |
10 |
69,105,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5248:Rhobtb1
|
UTSW |
10 |
69,084,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Rhobtb1
|
UTSW |
10 |
69,105,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Rhobtb1
|
UTSW |
10 |
69,106,563 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5836:Rhobtb1
|
UTSW |
10 |
69,105,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Rhobtb1
|
UTSW |
10 |
69,106,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6629:Rhobtb1
|
UTSW |
10 |
69,106,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6869:Rhobtb1
|
UTSW |
10 |
69,106,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7081:Rhobtb1
|
UTSW |
10 |
69,102,127 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7260:Rhobtb1
|
UTSW |
10 |
69,106,610 (GRCm39) |
nonsense |
probably null |
|
|
R7427:Rhobtb1
|
UTSW |
10 |
69,084,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Rhobtb1
|
UTSW |
10 |
69,084,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Rhobtb1
|
UTSW |
10 |
69,084,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Rhobtb1
|
UTSW |
10 |
69,102,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Rhobtb1
|
UTSW |
10 |
69,125,388 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8712:Rhobtb1
|
UTSW |
10 |
69,106,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Rhobtb1
|
UTSW |
10 |
69,106,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Rhobtb1
|
UTSW |
10 |
69,106,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Rhobtb1
|
UTSW |
10 |
69,106,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Rhobtb1
|
UTSW |
10 |
69,108,628 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9409:Rhobtb1
|
UTSW |
10 |
69,106,217 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9486:Rhobtb1
|
UTSW |
10 |
69,106,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Rhobtb1
|
UTSW |
10 |
69,106,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Rhobtb1
|
UTSW |
10 |
69,115,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Rhobtb1
|
UTSW |
10 |
69,125,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCAGTTCTGGAAATCCC -3'
(R):5'- AAGCCAAACTCTCAGGCAGG -3'
Sequencing Primer
(F):5'- GCAGTTCTGGAAATCCCACTTG -3'
(R):5'- AGGTCCTGGCCTGAAGAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation